Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family-Reference-Cited by-同舟云学术

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Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family

Published:2015-10-05 Issue:2 Volume:170 Page:540-543
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Komara Makanko¹,John Anne¹,Suleiman Jehan²³,Ali Bassam R.¹,Al-Gazali Lihadh²

Affiliation:

1. Department of Pathology; College of Medicine and Heath Sciences; United Arab Emirates University; United Arab Emirates

2. Department of Pediatrics; College of Medicine and Heath Sciences; United Arab Emirates University; United Arab Emirates

3. Department of Pediatrics; Tawam Hospital; Al-Ain United Arab Emirates

Funder

United Arab Emirates University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families;Alazami;Cell Rep,2015

2. A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion;Ali;BMC Medical Genetics,2012

3. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion;Onat;Eur J Hum Genet,2013

4. A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism;Garcias Gde;Int J Neurosci,2007

5. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred;Gulsuner;Genome Res,2011

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5. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4;Journal of Clinical Laboratory Analysis;2020-07-17

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